Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.400 | 11 | 66526181 | missense variant | T/G | snv | 1.5E-03 | 2.1E-03 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 3 | 133450432 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.040 | 3 | 133472412 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.807 | 0.120 | 15 | 90811275 | synonymous variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 20 | 33851064 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 21 | 6560927 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.040 | 21 | 43172105 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 21 | 43169244 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||
|
8 | 0.807 | 0.240 | 11 | 111908832 | missense variant | C/T | snv | 9.1E-04 | 8.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 11 | 111911691 | missense variant | G/A | snv | 2.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.040 | 11 | 111911694 | missense variant | G/A;C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 208160859 | stop gained | C/A;G;T | snv | 1.5E-04; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.040 | 2 | 208128258 | stop gained | C/A;G;T | snv | 2.4E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 2 | 208128257 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.200 | 2 | 208128231 | missense variant | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 208128325 | stop gained | C/A;T | snv | 3.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 2 | 208121728 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.200 | 2 | 208124183 | missense variant | C/A;T | snv | 4.4E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 3 | 186539566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 3 | 186538833 | stop gained | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 17 | 75763032 | missense variant | G/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.040 | 13 | 20142862 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 |